swiss primary ciliary dyskinesia registry

Conditions: Primary Ciliary Dyskinesia; Kartagener Syndrome

Summary: the swiss primary ciliary dyskinesia (pcd) registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with pcd in switzerland and provides data for national and international monitoring and research.

the swiss primary ciliary dyskinesia registry (ch-pcd) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. it started as a pilot project in the canton of bern and in 2014 was extended to include all switzerland. the data centre of the spcdr is located at the institute of social and preventive medicine at the university of bern. it contributes data to the international pcd registry and other international studies such as the international pcd (ipcd) cohort. objectives of the ch-pcd: the swiss primary ciliary dyskinesia registry collects information on diagnosis, symptoms, treatment and follow-up of patients with pcd in switzerland and provides data for national and international monitoring and research. in particular, it aims to: * identify all patients diagnosed with pcd in switzerland. * collect population based data (incidence, prevalence, time trends and regional trends). * document diagnostic evaluations, treatments and participation in clinical trials. * document the clinical course of pcd, quality of life, morbidity and mortality. * establish a research platform for clinical, epidemiological and basic research. study design: the ch-pcd is a patient registry. at baseline (inclusion of a patient to the registry), it collects retrospectively all available data since birth and it follows included patients throughout life until death or loss to follow up, collecting prospectively data at regular time intervals. what data is collected: the ch-pcd collects information on demographic characteristics (e.g. age, sex), diagnostic tests and clinical data about manifestations and management of the disease. it collects repeated follow-up data on growth, lung function, clinical manifestations from all affected organ systems, microbiology and imaging, lab results, therapeutic interventions (including surgery and physiotherapy) and hospitalisations. it also collects information on neonatal symptoms related to the disease and on the symptoms, that led to referral and pcd diagnosis. since 2020, the ch-pcd collects through questionnaire surveys patient-reported information on symptoms and lifestyle behaviours. study database: the study database is web-based, using the research electronic data capture (redcap) platform developed at vanderbilt university. redcap is widely used in academic research and allows data entry and extraction in various formats. how to participate: patients with pcd who would like to participate to the registry as well as physicians who treat patients with pcd should contact the ch-pcd to receive the study information and informed consent forms. for further details, please contact: spcdr@hin.ch funding: the setting up of the ch-pcd (salaries, consumables and equipment) was funded by several swiss funding bodies, including the lung leagues of bern, st. gallen, vaud, ticino and valais and the kantonalbernischer hilfsbund.research activities based on data included in the ch-pcd are funded by the swiss national science foundation (snf 320030_173044, 320030b_192804 and pz00p3_185923). the ch-pcd participated to the eu funded beat-pcd cost action (bm1407) and participates to the beat-pcd clinical research collaboration supported by the european respiratory society.

Eligibility criteria:
inclusion criteria: * patients diagnosed with primary ciliary dyskinesia * signed informed consent or assent exclusion criteria: -